Pachyonychia Congenita

Common Name(s)

Pachyonychia Congenita

Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. The fingernails and toenails may be thickened and abnormally shaped although 20/20 nails dystrophy is found only in one type of PC. The most debilitating feature is that affected individuals develop painful calluses and blisters on the soles of their feet (plantar keratoderma) and less frequently on the palms of their hands (palmoplantar keratoderma). Additional features include leukokeratosis (white patches on the tongue and inside of the mouth) sometimes misdiagnosed as thrush or leukoplakia; follicular hyperkeratosis (bumps around the elbows, knees, waistline or other friction points), and various cysts including numerous steatocystomas. Features may vary among affected individuals depending on their specific mutation. The classification of PC into two types has been replaced with a more correct system based on genetic testing identifying the specific keratin gene involved (see McLean, Journal of Investigative Dermatology, May 2011). The types are PC-K6a, PC-K6b, PC-K6c, PC-K16 and PC-K17. More than 100 specific mutations have been found which cause PC.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pachyonychia Congenita" for support, advocacy or research.

National Foundation for Ectodermal Dysplasias

The National Foundation for Ectodermal Dysplasias’ mission is to empower and connect people touched by ectodermal dysplasias through education, support, and research.

Last Updated: 7 May 2014

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Pachyonychia Congenita Project

Our mission is to develop and deliver effective treatments for Pachyonychia Congenita patients worldwide. Activities include research grants, educational outreach programs, Int'l PC Consortium annual scientific symposium, patient support meetings held annually, an IRB-approved research registry, free genetic testing and webinars and other support services for patients, families,

Last Updated: 27 Apr 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pachyonychia Congenita" for support, advocacy or research.

National Foundation for Ectodermal Dysplasias

The National Foundation for Ectodermal Dysplasias’ mission is to empower and connect people touched by ectodermal dysplasias through education, support, and research.

http://www.nfed.org

Last Updated: 7 May 2014

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Pachyonychia Congenita Project

Our mission is to develop and deliver effective treatments for Pachyonychia Congenita patients worldwide. Activities include research grants, educational outreach programs, Int'l PC Consortium annual scientific symposium, patient support meetings held annually, an IRB-approved research registry, free genetic testing and webinars and other support services for patients, families,

http://www.pachyonychia.org

Last Updated: 27 Apr 2015

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General Support Organizations

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General Resources

International PC Research Registry

Registry of approximately 1300 individuals

Updated 1 May 2014

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For People With PC

Brochure for those with PC

Updated 1 May 2014

Open Doc

Updated 1 May 2014

Open Doc
 
 
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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pachyonychia Congenita" returned 24 free, full-text research articles on human participants. First 3 results:

[Clinical and molecular findings of pachyonychia congenita type 2 (PC-2)].
 

Author(s): Francisco Cammarata-Scalisi, Ken Natsuga, Ellen Toyonaga, Wataru Nishie, Hiroshi Shimizu, Frances Stock, Melisse Milano, Pierina Petrosino, Asmiria Arenas de Sotolongo, Yoel Medina

Journal: Gac Med Mex. ;151(2):270-2.

 

Pachyonychia congenita is a group of autosomal dominant inheritance pattern disorders characterized by hypertrophic nail dystrophy There are two main clinical subtypes: type 1 and 2. Pachyonychia congenita type 2 is readily differentiated from type 1 by multiple steatocysts and/or ...

Last Updated: 7 May 2015

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A case with pachyonychia congenita and B-cell lymphoma.
 

Author(s): Vitorino Modesto dos Santos, Thiago Pereira Loures, João Daniel Bringel Rego, Christiane Aires Teixeira, Kayursula Dantas de Carvalho, Afonso Lucas Oliveira Nascimento

Journal: Acta Med Iran. 2014 ;52(7):578-81.

 

Pachyonychia congenital (PC) is a rare autosomal dominant genodermatosis characterized hyperkeratosis affecting the nails and palmoplantar areas, oral leukokeratosis, and cystic lesions. A 39-year-old woman with PC type 1 (Jadassohn-Lewandowsky syndrome) and B-cell lymphoma is described. ...

Last Updated: 19 Aug 2014

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The molecular genetic analysis of the expanding pachyonychia congenita case collection.
 

Author(s): N J Wilson, E A O'Toole, L M Milstone, C D Hansen, A A Shepherd, E Al-Asadi, M E Schwartz, W H I McLean, E Sprecher, F J D Smith

Journal: Br. J. Dermatol.. 2014 Aug;171(2):343-55.

 

Pachyonychia congenita (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma and nail dystrophy, often accompanied by oral leucokeratosis, cysts and follicular keratosis. It is caused by mutations in one of five keratin ...

Last Updated: 19 Aug 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pachyonychia Congenita" returned 1 free, full-text review articles on human participants. First 3 results:

Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita.
 

Author(s): Sancy A Leachman, Robyn P Hickerson, Peter R Hull, Frances J D Smith, Leonard M Milstone, E Birgitte Lane, Sherri J Bale, Dennis R Roop, W H Irwin McLean, Roger L Kaspar

Journal: J. Dermatol. Sci.. 2008 Sep;51(3):151-7.

 

The field of science and medicine has experienced a flood of data and technology associated with the human genome project. Over 10,000 human diseases have been genetically defined, but little progress has been made with respect to the clinical application of this knowledge. A notable ...

Last Updated: 4 Aug 2008

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Simvastatin Treatment of Pachyonychia Congenita
 

Status: Not yet recruiting

Condition Summary: Pachyonychia Congenita

 

Last Updated: 23 Jun 2011

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International Pachyonychia Congenita Research Registry
 

Status: Recruiting

Condition Summary: Pachyonychia Congenita

 

Last Updated: 16 Dec 2014

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Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal Skin
 

Status: Recruiting

Condition Summary: Epidermolysis Bullosa Simplex; Pachyonychia Congenita

 

Last Updated: 29 Oct 2015

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